Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.P50Q

DDX53

119 papers

RefSeq Summary

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA un...

Pfam Domains

KH_1aa 51–111UCSCKH domain
DEADaa 246–417UCSCDEAD/DEAH box helicase
Helicase_Caa 451–562UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 53

HGNC Alias Symbol

CT26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182699.4
p.P50Q
c.149C>A
Surrounding Variants
1 paper
NM_182699.4
p.C52_F53insFs
c.156_157insGG
1 paper
NM_182699.4
p.I55T
c.164T>C
1 paper
NM_182699.4
p.K56N
c.168G>C
1 paper
NM_182699.4
p.K56N
c.168G>T
1 paper
NM_182699.4
p.A43A
c.129A>T
1 paper
NM_182699.4
p.A43T
c.127G>A
1 paper
NM_182699.4
p.Q39H
c.117G>C
1 paper
NM_182699.4
p.Q39H
c.117G>T
1 paper
NM_182699.4
p.F36L
c.108C>A
1 paper
NM_182699.4
p.F36L
c.108C>G
1 paper
NM_182699.4
p.F36L
c.106T>C
1 paper
NM_182699.4
p.W32C
c.96G>C
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